Incidental Mutation 'R7643:Gon4l'
ID 590336
Institutional Source Beutler Lab
Gene Symbol Gon4l
Ensembl Gene ENSMUSG00000054199
Gene Name gon-4 like
Synonyms 1500041I23Rik, 2610100B20Rik
MMRRC Submission 045700-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.903) question?
Stock # R7643 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 88742531-88817406 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88810114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 1774 (D1774E)
Ref Sequence ENSEMBL: ENSMUSP00000103122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081695] [ENSMUST00000090942] [ENSMUST00000107494] [ENSMUST00000107498]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000081695
AA Change: D1774E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
AA Change: D1774E

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090942
AA Change: D1775E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
AA Change: D1775E

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 241 257 N/A INTRINSIC
low complexity region 349 378 N/A INTRINSIC
low complexity region 433 440 N/A INTRINSIC
low complexity region 528 543 N/A INTRINSIC
low complexity region 684 697 N/A INTRINSIC
Blast:SANT 814 866 2e-23 BLAST
low complexity region 962 976 N/A INTRINSIC
low complexity region 1312 1330 N/A INTRINSIC
low complexity region 1419 1435 N/A INTRINSIC
low complexity region 1453 1498 N/A INTRINSIC
low complexity region 1508 1542 N/A INTRINSIC
Pfam:PAH 1654 1700 2.1e-8 PFAM
low complexity region 1801 1812 N/A INTRINSIC
coiled coil region 1920 1944 N/A INTRINSIC
low complexity region 2086 2095 N/A INTRINSIC
SANT 2154 2205 2.2e-1 SMART
low complexity region 2208 2223 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107494
SMART Domains Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922

DomainStartEndE-ValueType
low complexity region 50 63 N/A INTRINSIC
Pfam:Tubulin_3 153 345 5.3e-28 PFAM
Pfam:Tubulin 169 300 7.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107498
AA Change: D1774E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
AA Change: D1774E

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 104 115 N/A INTRINSIC
low complexity region 150 163 N/A INTRINSIC
low complexity region 240 256 N/A INTRINSIC
low complexity region 348 377 N/A INTRINSIC
low complexity region 432 439 N/A INTRINSIC
low complexity region 527 542 N/A INTRINSIC
low complexity region 683 696 N/A INTRINSIC
Blast:SANT 813 865 1e-23 BLAST
low complexity region 961 975 N/A INTRINSIC
low complexity region 1311 1329 N/A INTRINSIC
low complexity region 1418 1434 N/A INTRINSIC
low complexity region 1452 1497 N/A INTRINSIC
low complexity region 1507 1541 N/A INTRINSIC
Pfam:PAH 1652 1700 8.8e-9 PFAM
low complexity region 1800 1811 N/A INTRINSIC
coiled coil region 1919 1943 N/A INTRINSIC
low complexity region 2085 2094 N/A INTRINSIC
SANT 2153 2204 2.2e-1 SMART
low complexity region 2207 2222 N/A INTRINSIC
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit arrested B cell development at the early pro-B cell stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A G 9: 15,209,156 (GRCm39) F46S probably damaging Het
Acaca T C 11: 84,229,182 (GRCm39) Y1670H probably damaging Het
Acrbp G A 6: 125,030,795 (GRCm39) R272Q possibly damaging Het
Adcy6 T A 15: 98,491,449 (GRCm39) Q1050L probably benign Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd13b A G 11: 77,363,911 (GRCm39) V395A probably benign Het
Ap3b2 T C 7: 81,126,820 (GRCm39) K310R probably benign Het
Bnc2 T C 4: 84,424,811 (GRCm39) D123G probably benign Het
Bst1 G A 5: 43,997,791 (GRCm39) M263I probably benign Het
Ccdc7a C T 8: 129,616,292 (GRCm39) G937E probably damaging Het
Cep290 A G 10: 100,373,415 (GRCm39) M1232V probably benign Het
Cfhr1 A G 1: 139,481,323 (GRCm39) Y186H possibly damaging Het
Dnah7c A T 1: 46,641,973 (GRCm39) H1203L probably benign Het
Emc7 A G 2: 112,285,624 (GRCm39) E71G probably benign Het
Exoc3l4 G A 12: 111,388,369 (GRCm39) probably benign Het
Fam83c A G 2: 155,672,924 (GRCm39) F278L possibly damaging Het
Gabpb2 C A 3: 95,107,536 (GRCm39) V180L probably benign Het
Gbp2b G T 3: 142,309,370 (GRCm39) Q160H probably benign Het
Gm19965 C G 1: 116,749,959 (GRCm39) Q547E unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr15 A C 16: 58,538,179 (GRCm39) Y303* probably null Het
Greb1 T C 12: 16,761,997 (GRCm39) D461G probably damaging Het
Gria4 T C 9: 4,793,950 (GRCm39) N36S probably benign Het
Hacd1 T C 2: 14,049,602 (GRCm39) I119V probably damaging Het
Ing5 T A 1: 93,740,155 (GRCm39) D101E probably damaging Het
Irak4 T A 15: 94,456,709 (GRCm39) N297K probably benign Het
Itga7 A G 10: 128,789,370 (GRCm39) D971G probably benign Het
Klf5 A G 14: 99,550,614 (GRCm39) E397G possibly damaging Het
Krtap29-1 C T 11: 99,869,024 (GRCm39) G286S probably damaging Het
Lrp2bp A T 8: 46,473,564 (GRCm39) probably null Het
Marchf4 T G 1: 72,486,379 (GRCm39) Q266H probably damaging Het
Med23 A G 10: 24,781,863 (GRCm39) T1056A probably benign Het
Megf11 T C 9: 64,613,914 (GRCm39) L1079P probably damaging Het
Mycbp2 G T 14: 103,583,701 (GRCm39) L85I probably benign Het
Nlgn2 G T 11: 69,718,711 (GRCm39) Q290K probably damaging Het
Nox4 A T 7: 86,972,962 (GRCm39) E323V probably damaging Het
Nup93 T C 8: 95,013,247 (GRCm39) probably null Het
Or10d5b T A 9: 39,886,117 (GRCm39) M1L unknown Het
Or14a257 C T 7: 86,138,776 (GRCm39) probably null Het
Or51e1 C T 7: 102,358,745 (GRCm39) T93I probably benign Het
Otop3 T C 11: 115,230,474 (GRCm39) L117P probably damaging Het
Pde6c C A 19: 38,129,869 (GRCm39) Q260K probably damaging Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Qser1 A T 2: 104,617,322 (GRCm39) Y1163* probably null Het
Rbm12 A T 2: 155,940,137 (GRCm39) I45N unknown Het
Rictor T A 15: 6,798,750 (GRCm39) Y332* probably null Het
Rpp14 C A 14: 8,090,325 (GRCm38) S83* probably null Het
Sel1l3 C T 5: 53,280,504 (GRCm39) probably null Het
Setd2 T C 9: 110,396,908 (GRCm39) probably null Het
Spink5 A G 18: 44,143,319 (GRCm39) T759A probably benign Het
Spon2 T A 5: 33,374,800 (GRCm39) E2V probably benign Het
Tdrd1 T C 19: 56,826,140 (GRCm39) S144P probably damaging Het
Tex15 A C 8: 34,065,148 (GRCm39) Y1526S probably damaging Het
Tex55 A G 16: 38,648,225 (GRCm39) Y295H probably benign Het
Tnfrsf21 T C 17: 43,348,807 (GRCm39) S140P probably benign Het
Trav6-2 T A 14: 52,904,899 (GRCm39) M11K probably benign Het
Trp53bp1 G T 2: 121,078,295 (GRCm39) probably null Het
Ttn T C 2: 76,565,171 (GRCm39) N28352S possibly damaging Het
Uckl1 T C 2: 181,214,899 (GRCm39) I292V probably benign Het
Unc13b T A 4: 43,216,333 (GRCm39) S211T probably benign Het
Zcchc4 T C 5: 52,965,635 (GRCm39) I313T possibly damaging Het
Zfp106 C T 2: 120,343,215 (GRCm39) R1811K probably benign Het
Zfp599 G T 9: 22,161,188 (GRCm39) Q326K probably benign Het
Zscan4e A T 7: 11,043,452 (GRCm39) M108K probably damaging Het
Other mutations in Gon4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00870:Gon4l APN 3 88,764,492 (GRCm39) missense probably damaging 1.00
IGL02002:Gon4l APN 3 88,802,643 (GRCm39) missense possibly damaging 0.46
IGL02065:Gon4l APN 3 88,764,517 (GRCm39) missense probably null 1.00
IGL02283:Gon4l APN 3 88,802,671 (GRCm39) missense probably damaging 0.99
IGL02669:Gon4l APN 3 88,802,806 (GRCm39) missense probably damaging 1.00
IGL03222:Gon4l APN 3 88,802,950 (GRCm39) missense possibly damaging 0.56
IGL03385:Gon4l APN 3 88,814,850 (GRCm39) missense probably benign 0.10
PIT4581001:Gon4l UTSW 3 88,802,821 (GRCm39) missense probably damaging 1.00
R0020:Gon4l UTSW 3 88,766,244 (GRCm39) missense probably damaging 1.00
R0115:Gon4l UTSW 3 88,802,989 (GRCm39) missense probably damaging 1.00
R0173:Gon4l UTSW 3 88,765,710 (GRCm39) missense probably damaging 1.00
R0270:Gon4l UTSW 3 88,765,707 (GRCm39) missense probably damaging 1.00
R0961:Gon4l UTSW 3 88,805,403 (GRCm39) splice site probably benign
R1017:Gon4l UTSW 3 88,765,803 (GRCm39) missense probably benign 0.15
R1163:Gon4l UTSW 3 88,799,842 (GRCm39) missense probably damaging 1.00
R1729:Gon4l UTSW 3 88,810,405 (GRCm39) missense probably damaging 1.00
R1764:Gon4l UTSW 3 88,799,906 (GRCm39) missense probably damaging 1.00
R1861:Gon4l UTSW 3 88,802,794 (GRCm39) missense probably damaging 1.00
R2141:Gon4l UTSW 3 88,794,902 (GRCm39) missense possibly damaging 0.66
R2347:Gon4l UTSW 3 88,770,824 (GRCm39) missense probably damaging 1.00
R2402:Gon4l UTSW 3 88,766,350 (GRCm39) missense probably damaging 1.00
R2842:Gon4l UTSW 3 88,802,794 (GRCm39) missense probably damaging 1.00
R4375:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4376:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4377:Gon4l UTSW 3 88,814,694 (GRCm39) missense probably benign 0.00
R4569:Gon4l UTSW 3 88,817,397 (GRCm39) intron probably benign
R4650:Gon4l UTSW 3 88,770,859 (GRCm39) missense possibly damaging 0.94
R4859:Gon4l UTSW 3 88,802,655 (GRCm39) missense probably benign 0.00
R4901:Gon4l UTSW 3 88,815,458 (GRCm39) missense possibly damaging 0.50
R4998:Gon4l UTSW 3 88,807,305 (GRCm39) missense probably damaging 1.00
R5059:Gon4l UTSW 3 88,807,319 (GRCm39) missense probably benign 0.00
R5217:Gon4l UTSW 3 88,794,882 (GRCm39) missense probably damaging 1.00
R5269:Gon4l UTSW 3 88,802,835 (GRCm39) missense probably benign
R5279:Gon4l UTSW 3 88,794,944 (GRCm39) missense probably benign
R5283:Gon4l UTSW 3 88,794,897 (GRCm39) missense probably damaging 1.00
R5386:Gon4l UTSW 3 88,765,803 (GRCm39) missense probably benign 0.15
R5433:Gon4l UTSW 3 88,803,532 (GRCm39) missense possibly damaging 0.93
R5583:Gon4l UTSW 3 88,807,278 (GRCm39) missense probably damaging 1.00
R5695:Gon4l UTSW 3 88,803,523 (GRCm39) frame shift probably null
R5921:Gon4l UTSW 3 88,817,254 (GRCm39) intron probably benign
R6003:Gon4l UTSW 3 88,803,400 (GRCm39) missense probably damaging 0.99
R6063:Gon4l UTSW 3 88,807,306 (GRCm39) missense probably damaging 1.00
R6217:Gon4l UTSW 3 88,799,968 (GRCm39) missense possibly damaging 0.62
R6273:Gon4l UTSW 3 88,763,156 (GRCm39) missense probably damaging 1.00
R6280:Gon4l UTSW 3 88,798,195 (GRCm39) missense probably damaging 1.00
R6790:Gon4l UTSW 3 88,766,305 (GRCm39) missense probably damaging 1.00
R6829:Gon4l UTSW 3 88,787,413 (GRCm39) missense possibly damaging 0.96
R6891:Gon4l UTSW 3 88,766,173 (GRCm39) splice site probably null
R7128:Gon4l UTSW 3 88,802,999 (GRCm39) missense possibly damaging 0.94
R7315:Gon4l UTSW 3 88,802,486 (GRCm39) missense probably benign 0.00
R7355:Gon4l UTSW 3 88,770,827 (GRCm39) missense probably damaging 1.00
R7426:Gon4l UTSW 3 88,814,829 (GRCm39) missense probably benign
R7635:Gon4l UTSW 3 88,802,413 (GRCm39) missense probably benign 0.03
R7715:Gon4l UTSW 3 88,815,313 (GRCm39) missense probably benign
R7773:Gon4l UTSW 3 88,803,102 (GRCm39) missense probably benign 0.00
R8090:Gon4l UTSW 3 88,799,931 (GRCm39) missense probably damaging 1.00
R8224:Gon4l UTSW 3 88,802,449 (GRCm39) missense probably damaging 1.00
R8260:Gon4l UTSW 3 88,799,937 (GRCm39) missense probably damaging 0.98
R8434:Gon4l UTSW 3 88,762,086 (GRCm39) missense probably damaging 1.00
R8732:Gon4l UTSW 3 88,807,291 (GRCm39) missense possibly damaging 0.95
R8812:Gon4l UTSW 3 88,802,314 (GRCm39) missense possibly damaging 0.86
R9132:Gon4l UTSW 3 88,815,484 (GRCm39) missense probably benign 0.29
R9161:Gon4l UTSW 3 88,808,955 (GRCm39) missense probably damaging 1.00
R9187:Gon4l UTSW 3 88,786,618 (GRCm39) missense probably benign 0.10
R9212:Gon4l UTSW 3 88,803,730 (GRCm39) missense probably benign 0.01
R9338:Gon4l UTSW 3 88,809,019 (GRCm39) missense probably benign 0.00
R9387:Gon4l UTSW 3 88,802,260 (GRCm39) missense probably benign 0.00
R9416:Gon4l UTSW 3 88,803,538 (GRCm39) missense probably benign 0.00
R9607:Gon4l UTSW 3 88,765,751 (GRCm39) missense probably damaging 0.99
Z1177:Gon4l UTSW 3 88,766,343 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACTTTCCAAGGCACACAGTG -3'
(R):5'- TCAAACTAAATGAGAGTTGGTGGC -3'

Sequencing Primer
(F):5'- GCCAAGCCTGAATACCTGAGTTTG -3'
(R):5'- CAGTGAGTAGACTTGGGGATCC -3'
Posted On 2019-10-24